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rs34273731

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34273731(G;T)
Make rs34273731(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position177133
GeneHBA1
is asnp
is mentioned by
dbSNPrs34273731
ebirs34273731
HLIrs34273731
Exacrs34273731
Varsomers34273731
Maprs34273731
PheGenIrs34273731
hapmaprs34273731
1000 genomesrs34273731
hgdprs34273731
ensemblrs34273731
gopubmedrs34273731
geneviewrs34273731
scholarrs34273731
googlers34273731
pharmgkbrs34273731
gwascentralrs34273731
openSNPrs34273731
23andMers34273731
23andMe allrs34273731
SNP Nexus

SNPshotrs34273731
SNPdbers34273731
MSV3drs34273731
GWAS Ctlgrs34273731
Max Magnitude0
OMIM141800
Desc
Variant0211
Relatedalso
ClinVar
Risk rs34273731(T;T)
Alt rs34273731(T;T)
Reference rs34273731(G;G)
Significance Other
Disease HEMOGLOBIN BEZIERS
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN BEZIERS
Reversed 0
HGVS NC_000016.9:g.227132G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017230.2,



[PMID 15008266] Two new alpha chain variants: Hb Die [alpha93(FG5)Val --> Ala (alpha1)] and Hb Beziers [alpha99(G6)Lys --> Asn (alpha1)].